A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I

Pediatrics International

Volumn 47, Issue 6, 2005, Pages 684-686

  Matsumori, Mika ^a   Shoji, Yutaka ^a   Takahashi, Tsutomu ^a   Shoji, Yasuko ^a   Takada, Goro ^a  

^a AKITA UNIVERSITY   (Japan)

Author keywords

3 methylglutaconic aciduria type I; AUH gene

Indexed keywords

3 METHYLGLUTACONIC ACIDURIA TYPE I; ARTICLE; AUH GENE; CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; DNA SEQUENCE; GENE; GENE AMPLIFICATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; INFANT; JAPAN; MALE; METABOLIC DISORDER; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; ATROPHY; GENETICS; INBORN ERROR OF METABOLISM; PATHOLOGY; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; TELENCEPHALON; URINE;

3 METHYLGLUTACONIC ACID; 3-METHYLGLUTACONIC ACID; AUH PROTEIN, HUMAN; ENOYL COENZYME A HYDRATASE; GLUTARIC ACID DERIVATIVE; RNA BINDING PROTEIN;

ATROPHY; CHILD, PRESCHOOL; ENOYL-COA HYDRATASE; GLUTARATES; HUMANS; MALE; METABOLISM, INBORN ERRORS; PEDIGREE; PHENOTYPE; RNA-BINDING PROTEINS; TELENCEPHALON;

EID: 33644873755     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200x.2005.02130.x     Document Type: Article

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